Retinitis Pigmentosa in Puerto Rico

Abstract

Introduction: Previous studies have reported that the prevalence of Retinitis pigmentosa (RP) varies between one per 3,000 to one in every 5,000 in the general population. Purpose: To study the incidence and ocular findings of RP in a sub-urban community in Puerto Rico. Methods: We conducted a non-concurrent prospective study of 10,100 patients in a sub-urban San Juan community. Results: 44 out of the 10,100 patients had RP (0.44%). Eight out of the 44 patients (18%) had nystagmus, twenty-eight (31.8%) had microcornea, 3 patients (6.8%) had sluggish papillary reaction. Six patients (13.6%) had mild cataracts, 27 (65.9%) had attenuated retinal vessels and thirty five patients (81.4%) had bony spicules. Fifteen patients (34.1%) out of the 44 had retinitis pigmentosa as part of the Bardet-Biedl syndrome. Conclusion: Incidence of RP in Puerto Rico is higher when compared to Maine and Spain (p < 0.001). Autosomal recessive pattern of inheritance is the most common in Puerto Rico. These findings could be due to the island’s geographic isolation, and inbreeding.